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Center for Computational Systems Medicine
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Fusion Gene Summary

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Fusion Gene ORF analysis

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Fusion Genomic Features

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Fusion Protein Features

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Fusion Gene Sequence

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Fusion Gene PPI analysis

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Related Drugs

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Related Diseases

Fusion gene:FAM222B-CAT (FusionGDB2 ID:28881)

Fusion Gene Summary for FAM222B-CAT

check button Fusion gene summary
Fusion gene informationFusion gene name: FAM222B-CAT
Fusion gene ID: 28881
HgeneTgene
Gene symbol

FAM222B

CAT

Gene ID

55731

10249

Gene namefamily with sequence similarity 222 member Bglycine-N-acyltransferase
SynonymsC17orf63ACGNAT|CAT|GAT
Cytomap

17q11.2

11q12.1

Type of geneprotein-codingprotein-coding
Descriptionprotein FAM222Buncharacterized protein C17orf63glycine N-acyltransferaseAAcHRP-1(CLP)acyl-CoA:glycine N-acyltransferasearalkyl acyl-CoA N-acyltransferasearalkyl acyl-CoA:amino acid N-acyltransferasearalkyl-CoA N-acyltransferasebenzoyl-coenzyme A:glycine N-acyltransferaseepididymis secretory sp
Modification date2020031320200313
UniProtAcc

Q8WU58

Q6ZRH7

Ensembl transtripts involved in fusion geneENST00000341217, ENST00000581407, 
ENST00000582266, ENST00000452648, 
ENST00000582059, ENST00000583953, 
ENST00000577682, ENST00000583522, 
ENST00000581381, 
ENST00000241052, 
ENST00000534710, 
Fusion gene scores* DoF score29 X 15 X 15=652514 X 11 X 8=1232
# samples 4318
** MAII scorelog2(43/6525*10)=-3.92356933675515
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(18/1232*10)=-2.77493344436523
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: FAM222B [Title/Abstract] AND CAT [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointFAM222B(27161310)-CAT(34477557), # samples:1
FAM222B(27169699)-CAT(34477557), # samples:1
Anticipated loss of major functional domain due to fusion event.
* DoF score (Degree of Frequency) = # partners X # break points X # cancer types
** MAII score (Major Active Isofusion Index) = log2(# samples/DoF score*10)

check button Gene ontology of each fusion partner gene with evidence of Inferred from Direct Assay (IDA) from Entrez
PartnerGeneGO IDGO termPubMed ID
TgeneCAT

GO:0006544

glycine metabolic process

22475485

TgeneCAT

GO:1901787

benzoyl-CoA metabolic process

22475485


check buttonFusion gene breakpoints across FAM222B (5'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.

check buttonFusion gene breakpoints across CAT (3'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.

check button Fusion gene information from two resources (ChiTars 5.0 and ChimerDB 4.0)
* All genome coordinats were lifted-over on hg19.
* Click on the break point to see the gene structure around the break point region using the UCSC Genome Browser.
SourceDiseaseSampleHgeneHchrHbpHstrandTgeneTchrTbpTstrand
ChimerDB4UCECTCGA-B5-A0K3FAM222Bchr17

27161310

-CATchr11

34477557

+
ChimerDB4UCECTCGA-B5-A0K3FAM222Bchr17

27169699

-CATchr11

34477557

+


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Fusion Gene ORF analysis for FAM222B-CAT

check button Open reading frame (ORF) analsis of fusion genes based on Ensembl gene isoform structure.
* Click on the break point to see the gene structure around the break point region using the UCSC Genome Browser.
ORFHenstTenstHgeneHchrHbpHstrandTgeneTchrTbpTstrand
intron-3CDSENST00000341217ENST00000241052FAM222Bchr17

27161310

-CATchr11

34477557

+
intron-intronENST00000341217ENST00000534710FAM222Bchr17

27161310

-CATchr11

34477557

+
intron-3CDSENST00000581407ENST00000241052FAM222Bchr17

27161310

-CATchr11

34477557

+
intron-intronENST00000581407ENST00000534710FAM222Bchr17

27161310

-CATchr11

34477557

+
intron-3CDSENST00000582266ENST00000241052FAM222Bchr17

27161310

-CATchr11

34477557

+
intron-intronENST00000582266ENST00000534710FAM222Bchr17

27161310

-CATchr11

34477557

+
intron-3CDSENST00000452648ENST00000241052FAM222Bchr17

27161310

-CATchr11

34477557

+
intron-intronENST00000452648ENST00000534710FAM222Bchr17

27161310

-CATchr11

34477557

+
intron-3CDSENST00000582059ENST00000241052FAM222Bchr17

27161310

-CATchr11

34477557

+
intron-intronENST00000582059ENST00000534710FAM222Bchr17

27161310

-CATchr11

34477557

+
5UTR-3CDSENST00000583953ENST00000241052FAM222Bchr17

27161310

-CATchr11

34477557

+
5UTR-intronENST00000583953ENST00000534710FAM222Bchr17

27161310

-CATchr11

34477557

+
5UTR-3CDSENST00000577682ENST00000241052FAM222Bchr17

27161310

-CATchr11

34477557

+
5UTR-intronENST00000577682ENST00000534710FAM222Bchr17

27161310

-CATchr11

34477557

+
5UTR-3CDSENST00000583522ENST00000241052FAM222Bchr17

27161310

-CATchr11

34477557

+
5UTR-intronENST00000583522ENST00000534710FAM222Bchr17

27161310

-CATchr11

34477557

+
intron-3CDSENST00000581381ENST00000241052FAM222Bchr17

27161310

-CATchr11

34477557

+
intron-intronENST00000581381ENST00000534710FAM222Bchr17

27161310

-CATchr11

34477557

+
intron-3CDSENST00000341217ENST00000241052FAM222Bchr17

27169699

-CATchr11

34477557

+
intron-intronENST00000341217ENST00000534710FAM222Bchr17

27169699

-CATchr11

34477557

+
5UTR-3CDSENST00000581407ENST00000241052FAM222Bchr17

27169699

-CATchr11

34477557

+
5UTR-intronENST00000581407ENST00000534710FAM222Bchr17

27169699

-CATchr11

34477557

+
5UTR-3CDSENST00000582266ENST00000241052FAM222Bchr17

27169699

-CATchr11

34477557

+
5UTR-intronENST00000582266ENST00000534710FAM222Bchr17

27169699

-CATchr11

34477557

+
intron-3CDSENST00000452648ENST00000241052FAM222Bchr17

27169699

-CATchr11

34477557

+
intron-intronENST00000452648ENST00000534710FAM222Bchr17

27169699

-CATchr11

34477557

+
intron-3CDSENST00000582059ENST00000241052FAM222Bchr17

27169699

-CATchr11

34477557

+
intron-intronENST00000582059ENST00000534710FAM222Bchr17

27169699

-CATchr11

34477557

+
intron-3CDSENST00000583953ENST00000241052FAM222Bchr17

27169699

-CATchr11

34477557

+
intron-intronENST00000583953ENST00000534710FAM222Bchr17

27169699

-CATchr11

34477557

+
5UTR-3CDSENST00000577682ENST00000241052FAM222Bchr17

27169699

-CATchr11

34477557

+
5UTR-intronENST00000577682ENST00000534710FAM222Bchr17

27169699

-CATchr11

34477557

+
5UTR-3CDSENST00000583522ENST00000241052FAM222Bchr17

27169699

-CATchr11

34477557

+
5UTR-intronENST00000583522ENST00000534710FAM222Bchr17

27169699

-CATchr11

34477557

+
5UTR-3CDSENST00000581381ENST00000241052FAM222Bchr17

27169699

-CATchr11

34477557

+
5UTR-intronENST00000581381ENST00000534710FAM222Bchr17

27169699

-CATchr11

34477557

+

check buttonORFfinder result based on the fusion transcript sequence of in-frame fusion genes.
HenstTenstHgeneHchrHbpHstrandTgeneTchrTbpTstrandSeq length
(transcript)
BP loci
(transcript)
Predicted start
(transcript)
Predicted stop
(transcript)
Seq length
(amino acids)

check buttonDeepORF prediction of the coding potential based on the fusion transcript sequence of in-frame fusion genes. DeepORF is a coding potential classifier based on convolutional neural network by comparing the real Ribo-seq data. If the no-coding score < 0.5 and coding score > 0.5, then the in-frame fusion transcript is predicted as being likely translated.
HenstTenstHgeneHchrHbpHstrandTgeneTchrTbpTstrandNo-coding scoreCoding score

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Fusion Genomic Features for FAM222B-CAT


check buttonFusionAI prediction of the potential fusion gene breakpoint based on the pre-mature RNA sequence context (+/- 5kb of individual partner genes, total 20kb length sequence). FusionAI is a fusion gene breakpoint classifier based on convolutional neural network by comparing the fusion positive and negative sequence context of ~ 20K fusion gene data. From here, we can have the relative potentency of the 20K genomic sequence how individual sequnce will be likely used as the gene fusion breakpoints.
HgeneHchrHbpHstrandTgeneTchrTbpTstrand1-pp (fusion gene breakpoint)
FAM222Bchr1727161310-CATchr1134477557+1.25E-081
FAM222Bchr1727169699-CATchr1134477557+3.71E-121
FAM222Bchr1727161310-CATchr1134477557+1.25E-081
FAM222Bchr1727169699-CATchr1134477557+3.71E-121

check buttonDistribution of 44 human genomic features loci across 20kb length fusion breakpoint regions. We integrated a total of 44 different types of human genomic feature loci information across five big categories including virus integration sites, repeats, structural variants, chromatin states, and gene expression regulation. More details are in help page.

check buttonDistribution of 44 human genomic features loci across 20kb length fusion breakpoint regions that are ovelapped with the top 1% feature importance score regions. More details are in help page.

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Fusion Protein Features for FAM222B-CAT


check button Go to

FGviewer for the breakpoints of :-:

.
- FGviewer provides the online visualization of the retention search of the protein functional features across DNA, RNA, protein, and pathological levels.
FGviewer

check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
FAM222B

Q8WU58

CAT

Q6ZRH7

FUNCTION: Probably involved in sperm cell hyperactivation via its association with CATSPER1. Sperm cell hyperactivation is needed for sperm motility which is essential late in the preparation of sperm for fertilization. {ECO:0000250|UniProtKB:C6KI89}.

check buttonRetention analysis result of each fusion partner protein across 39 protein features of UniProt such as six molecule processing features, 13 region features, four site features, six amino acid modification features, two natural variation features, five experimental info features, and 3 secondary structure features. Here, because of limited space for viewing, we only show the protein feature retention information belong to the 13 regional features. All retention annotation result can be downloaded at

download page


* Minus value of BPloci means that the break pointn is located before the CDS.
- In-frame and retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note

- In-frame and not-retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note


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Fusion Gene Sequence for FAM222B-CAT


check button For in-frame fusion transcripts, we provide the fusion transcript sequences and fusion amino acid sequences. To have fusion amino acid sequence, we ran ORFfinder and chose the longest ORF among the all predicted ones.

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Fusion Gene PPI Analysis for FAM222B-CAT


check button Go to ChiPPI (Chimeric Protein-Protein interactions) to see the chimeric PPI interaction in

ChiPPI page.


check button Protein-protein interactors with each fusion partner protein in wild-type (BIOGRID-3.4.160)
HgeneHgene's interactorsTgeneTgene's interactors


check button - Retained PPIs in in-frame fusion.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenStill interaction with


check button - Lost PPIs in in-frame fusion.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenInteraction lost with


check button - Retained PPIs, but lost function due to frame-shift fusion.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenInteraction lost with


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Related Drugs for FAM222B-CAT


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.8 2021-05-08)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status

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Related Diseases for FAM222B-CAT


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
TgeneCATC0268419Acatalasia7CTD_human;GENOMICS_ENGLAND;ORPHANET
TgeneCATC0007621Neoplastic Cell Transformation6CTD_human
TgeneCATC0752048Hypocatalasemia5CTD_human
TgeneCATC2931868Catalase deficiency5CTD_human;ORPHANET
TgeneCATC2936847Acatalasemia Japanese type5CTD_human
TgeneCATC2936848Acatalasemia Swiss type5CTD_human
TgeneCATC0020538Hypertensive disease4CTD_human
TgeneCATC0035126Reperfusion Injury4CTD_human
TgeneCATC0038220Status Epilepticus4CTD_human
TgeneCATC0270823Petit mal status4CTD_human
TgeneCATC0311335Grand Mal Status Epilepticus4CTD_human
TgeneCATC0393734Complex Partial Status Epilepticus4CTD_human
TgeneCATC0751522Status Epilepticus, Subclinical4CTD_human
TgeneCATC0751523Non-Convulsive Status Epilepticus4CTD_human
TgeneCATC0751524Simple Partial Status Epilepticus4CTD_human
TgeneCATC0002152Alloxan Diabetes3CTD_human
TgeneCATC0011853Diabetes Mellitus, Experimental3CTD_human
TgeneCATC0022333Jacksonian Seizure3CTD_human
TgeneCATC0027627Neoplasm Metastasis3CTD_human
TgeneCATC0036572Seizures3CTD_human
TgeneCATC0038433Streptozotocin Diabetes3CTD_human
TgeneCATC0149958Complex partial seizures3CTD_human
TgeneCATC0234533Generalized seizures3CTD_human
TgeneCATC0234535Clonic Seizures3CTD_human
TgeneCATC0235874Disease Exacerbation3CTD_human
TgeneCATC0270824Visual seizure3CTD_human
TgeneCATC0270844Tonic Seizures3CTD_human
TgeneCATC0270846Epileptic drop attack3CTD_human
TgeneCATC0422850Seizures, Somatosensory3CTD_human
TgeneCATC0422852Seizures, Auditory3CTD_human
TgeneCATC0422853Olfactory seizure3CTD_human
TgeneCATC0422854Gustatory seizure3CTD_human
TgeneCATC0422855Vertiginous seizure3CTD_human
TgeneCATC0494475Tonic - clonic seizures3CTD_human
TgeneCATC0751056Non-epileptic convulsion3CTD_human
TgeneCATC0751110Single Seizure3CTD_human
TgeneCATC0751123Atonic Absence Seizures3CTD_human
TgeneCATC0751494Convulsive Seizures3CTD_human
TgeneCATC0751495Seizures, Focal3CTD_human
TgeneCATC0751496Seizures, Sensory3CTD_human
TgeneCATC3495874Nonepileptic Seizures3CTD_human
TgeneCATC4048158Convulsions3CTD_human
TgeneCATC4316903Absence Seizures3CTD_human
TgeneCATC4317109Epileptic Seizures3CTD_human
TgeneCATC4317123Myoclonic Seizures3CTD_human
TgeneCATC4505436Generalized Absence Seizures3CTD_human
TgeneCATC0000771Abnormalities, Drug-Induced2CTD_human
TgeneCATC0001973Alcoholic Intoxication, Chronic2PSYGENET
TgeneCATC0011860Diabetes Mellitus, Non-Insulin-Dependent2CTD_human
TgeneCATC0019193Hepatitis, Toxic2CTD_human
TgeneCATC0022661Kidney Failure, Chronic2CTD_human
TgeneCATC0027540Necrosis2CTD_human
TgeneCATC0027626Neoplasm Invasiveness2CTD_human
TgeneCATC0860207Drug-Induced Liver Disease2CTD_human
TgeneCATC1262760Hepatitis, Drug-Induced2CTD_human
TgeneCATC1269683Major Depressive Disorder2CTD_human;PSYGENET
TgeneCATC3658290Drug-Induced Acute Liver Injury2CTD_human
TgeneCATC4277682Chemical and Drug Induced Liver Injury2CTD_human
TgeneCATC4279912Chemically-Induced Liver Toxicity2CTD_human
TgeneCATC0003493Aortic Diseases1CTD_human
TgeneCATC0003865Arthritis, Adjuvant-Induced1CTD_human
TgeneCATC0003873Rheumatoid Arthritis1CTD_human
TgeneCATC0004045Asphyxia Neonatorum1CTD_human
TgeneCATC0004096Asthma1CTD_human
TgeneCATC0004352Autistic Disorder1CTD_human
TgeneCATC0004943Behcet Syndrome1CTD_human
TgeneCATC0006142Malignant neoplasm of breast1CTD_human
TgeneCATC0006826Malignant Neoplasms1CTD_human
TgeneCATC0007131Non-Small Cell Lung Carcinoma1CTD_human
TgeneCATC0007786Brain Ischemia1CTD_human
TgeneCATC0008370Cholestasis1CTD_human
TgeneCATC0008909Claustrophobia1CTD_human
TgeneCATC0011574Involutional Depression1CTD_human
TgeneCATC0011849Diabetes Mellitus1CTD_human
TgeneCATC0011854Diabetes Mellitus, Insulin-Dependent1CTD_human
TgeneCATC0011882Diabetic Neuropathies1CTD_human
TgeneCATC0013386Dyskinesia, Drug-Induced1CTD_human
TgeneCATC0013604Edema1CTD_human
TgeneCATC0015695Fatty Liver1CTD_human
TgeneCATC0015923Fetal Alcohol Syndrome1CTD_human
TgeneCATC0017638Glioma1CTD_human
TgeneCATC0018801Heart failure1CTD_human
TgeneCATC0018802Congestive heart failure1CTD_human
TgeneCATC0019158Hepatitis1CTD_human
TgeneCATC0019189Hepatitis, Chronic1CTD_human
TgeneCATC0020452Hyperemia1CTD_human
TgeneCATC0020550Hyperthyroidism1CTD_human
TgeneCATC0020649Hypotension1CTD_human
TgeneCATC0022593Keratosis1CTD_human
TgeneCATC0022594Keratosis Blennorrhagica1CTD_human
TgeneCATC0022650Kidney Calculi1CTD_human
TgeneCATC0023212Left-Sided Heart Failure1CTD_human
TgeneCATC0023891Liver Cirrhosis, Alcoholic1CTD_human
TgeneCATC0024141Lupus Erythematosus, Systemic1CTD_human
TgeneCATC0024796Marfan Syndrome1CTD_human
TgeneCATC0025500Mesothelioma1CTD_human
TgeneCATC0027051Myocardial Infarction1CTD_human
TgeneCATC0027055Myocardial Reperfusion Injury1CTD_human
TgeneCATC0027651Neoplasms1CTD_human
TgeneCATC0029458Osteoporosis, Postmenopausal1CTD_human
TgeneCATC0030246Pustulosis of Palms and Soles1CTD_human
TgeneCATC0032927Precancerous Conditions1CTD_human
TgeneCATC0033141Cardiomyopathies, Primary1CTD_human
TgeneCATC0033626Protein Deficiency1CTD_human
TgeneCATC0033860Psoriasis1CTD_human
TgeneCATC0034063Pulmonary Edema1CTD_human
TgeneCATC0034065Pulmonary Embolism1CTD_human
TgeneCATC0034069Pulmonary Fibrosis1CTD_human
TgeneCATC0036529Myocardial Diseases, Secondary1CTD_human
TgeneCATC0038358Gastric ulcer1CTD_human
TgeneCATC0041408Turner Syndrome1CTD_human
TgeneCATC0041696Unipolar Depression1PSYGENET
TgeneCATC0042484Venous Engorgement1CTD_human
TgeneCATC0079744Diffuse Large B-Cell Lymphoma1CTD_human
TgeneCATC0086501Keratoma1CTD_human
TgeneCATC0086692Benign Neoplasm1CTD_human
TgeneCATC0149519Chronic Persistent Hepatitis1CTD_human
TgeneCATC0151526Premature Birth1CTD_human
TgeneCATC0151603Anasarca1CTD_human
TgeneCATC0178824Reactive Hyperemia1CTD_human
TgeneCATC0205734Diabetes, Autoimmune1CTD_human
TgeneCATC0235527Heart Failure, Right-Sided1CTD_human
TgeneCATC0242380Libman-Sacks Disease1CTD_human
TgeneCATC0242488Acute Lung Injury1CTD_human
TgeneCATC0242526Gonadal Dysgenesis, 45,X1CTD_human
TgeneCATC0259783mixed gliomas1CTD_human
TgeneCATC0271673Symmetric Diabetic Proximal Motor Neuropathy1CTD_human
TgeneCATC0271674Asymmetric Diabetic Proximal Motor Neuropathy1CTD_human
TgeneCATC0271678Diabetic Mononeuropathy1CTD_human
TgeneCATC0271680Diabetic Polyneuropathies1CTD_human
TgeneCATC0271685Diabetic Amyotrophy1CTD_human
TgeneCATC0271686Diabetic Autonomic Neuropathy1CTD_human
TgeneCATC0282313Condition, Preneoplastic1CTD_human
TgeneCATC0333233Active Hyperemia1CTD_human
TgeneCATC0333704Chromosome Breaks1CTD_human
TgeneCATC0342302Brittle diabetes1CTD_human
TgeneCATC0349231Phobic anxiety disorder1CTD_human
TgeneCATC0376628Chromosome Breakage1CTD_human
TgeneCATC0393835Diabetic Asymmetric Polyneuropathy1CTD_human
TgeneCATC0400966Non-alcoholic Fatty Liver Disease1CTD_human
TgeneCATC0520463Chronic active hepatitis1CTD_human
TgeneCATC0524611Cryptogenic Chronic Hepatitis1CTD_human
TgeneCATC0524702Pulmonary Thromboembolisms1CTD_human
TgeneCATC0555198Malignant Glioma1CTD_human
TgeneCATC0678222Breast Carcinoma1CTD_human
TgeneCATC0751074Diabetic Neuralgia1CTD_human
TgeneCATC0751088Dyskinesia, Medication-Induced1CTD_human
TgeneCATC0814154Alcohol Related Neurodevelopmental Disorder1CTD_human
TgeneCATC0878544Cardiomyopathies1CTD_human
TgeneCATC0917798Cerebral Ischemia1CTD_human
TgeneCATC0971858Arthritis, Collagen-Induced1CTD_human
TgeneCATC0993582Arthritis, Experimental1CTD_human
TgeneCATC1257931Mammary Neoplasms, Human1CTD_human
TgeneCATC1456865Ureteral Calculi1CTD_human
TgeneCATC1458155Mammary Neoplasms1CTD_human
TgeneCATC1527168Bonnevie-Ullrich Syndrome1CTD_human
TgeneCATC1571983Involutional paraphrenia1CTD_human
TgeneCATC1571984Psychosis, Involutional1CTD_human
TgeneCATC1959583Myocardial Failure1CTD_human
TgeneCATC1961112Heart Decompensation1CTD_human
TgeneCATC2711227Steatohepatitis1CTD_human
TgeneCATC2985290Fetal Alcohol Spectrum Disorders1CTD_human
TgeneCATC3146244Alcohol Related Birth Defect1CTD_human
TgeneCATC3241937Nonalcoholic Steatohepatitis1CTD_human
TgeneCATC3661483Partial Fetal Alcohol Syndrome1CTD_human
TgeneCATC3714618Primary Hyperthyroidism1CTD_human
TgeneCATC3837958Diabetes Mellitus, Ketosis-Prone1CTD_human
TgeneCATC4554117Diabetes Mellitus, Sudden-Onset1CTD_human
TgeneCATC4704874Mammary Carcinoma, Human1CTD_human
TgeneCATC4721507Alveolitis, Fibrosing1CTD_human
TgeneCATC4721845Marfan Syndrome, Type I1CTD_human